Skip To Main Content

Cardiac involvement in Fabry disease

Cardiovascular disease is the leading cause of death in Fabry disease patients.1 Undiagnosed and untreated Fabry disease leads to progressive, irreversible, life-threatening heart injury.2,3

Think Fabry, think cardiac symptoms before serious complications occur4-6

Cardiac_Manifestations_Over_Time

classic-male-image

EKG abnormalities in Fabry disease include:2,14,15

  • Bradycardia, which is a common finding in adults and frequently present in children
  • Voltage criteria and repolarization changes related to left ventricular hypertrophy and/or remodeling
  • ST segment depression
  • T-wave inversions
  • Shortened P-wave duration, which is one of the earliest signs of cardiac involvement6
  • Enlarged QRS complex and prolonged QTc intervals, which have been associated with advancing Fabry disease6

You SHOULD screen high-risk patients to exclude Fabry disease from differential diagnosis2

ECG

ECG

LVH

Short PQ interval in young patients

Atrioventricular blocks in adult patients

Bradycardia

Chronotropic incompetence

ECHOCARDIOGRAM

ECHOCARDIOGRAM

LVH with normal systolic function

Disproportionate hypertrophy of papillary muscles14

Mitral and aortic valve thickening with mild-to moderate regurgitation

Reduced global longitudinal strain

CMR

CMR

Basal-inferolateral late gadolinium enhancement

Low native T1 (caution with ‘pseudo normalization’ in areas affected by fibrosis)

High focal/global T2

LABORATORY

LABORATORY

Elevated high-sensitivity troponin

Elevated NT-proBNP

Fass.se

Relaterade Artiklar

MAT-BE-2500570 (ver. 1) 05/2025